Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6906
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Type: Journal article
Title: Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Author: Burdon, K.
McKay, J.
Sale, M.
Russell-Eggitt, I.
Mackey, D.
Wirth, G.
Elder, J.
Nicoll, A.
Clarke, M.
FitzGerald, L.
Stankovich, J.
Shaw, M.
Sharma, S.
Gajovic, S.
Gruss, P.
Ross, S.
Thomas, P.
Voss, A.
Thomas, T.
Gecz, J.
et al.
Citation: American Journal of Human Genetics, 2003; 73(5):1120-1130
Publisher: Univ Chicago Press
Issue Date: 2003
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Kathryn P. Burdon, James D. McKay, Michéle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, and Jamie E. Craig
Abstract: Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.
Keywords: Animals; Humans; Mice; Tooth Abnormalities; Cataract; Syndrome; Abnormalities, Multiple; Nuclear Proteins; Gene Expression Profiling; Pedigree; In Situ Hybridization; Phenotype; Mutation; Introns; Exons; Gene Expression Regulation, Developmental; Amino Acid Sequence; Molecular Sequence Data; Intellectual Disability; RNA, Messenger; Australia; Female; Male
RMID: 0020030998
DOI: 10.1086/379381
Appears in Collections:Paediatrics publications

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